Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene

Abstract

Background Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by the accumulation of free sialic acid in lysosomes. Case presentation The patient presented prenatally with fetal ascites and large scrotal hernias, without pleural or pericardial effusion. During the infantile period, he was diagnosed with permanent isolated immunoglobulin G (IgG) hypogammaglobulinemia, which thus far has rarely been associated with ISSD. The analysis of the SLC17A5 gene revealed a novel homozygous 94 bp gene deletion. We further provide a detailed description of pre- and postnatal clinical and radiographic findings. Conclusions Fetal ascites could be the first sign of several lysosomal storage diseases (LSDs), including ISSD. The analysis of LSD gene panels is an effective approach to diagnosis in the case of non-specific symptoms and when specific biochemical tests are not easily available.

Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases

“…Similarly, a partial MCOLN1 gene deletion (c.1_788del) has been detected and described in patients with Mucolipidosis Type IV and identified as founder mutation in the Ashkenazi Jewish population [ 104 ], while a homozygous 94 bp deletion and a homozygous deletion of exons 8–9 in SLC17A5 were found in a child and in a prenatal hydrops fetalis with infantile free sialic acid storage disease, respectively [ 105 , 106 ].…”